Kian Rose shouted "Who is it?" from behind the door when he heard the doorbell rang.

The reporter answered, and the almost 12-year-old boy opened the white door of his family's east Vallejo home, smiled and said, "Oh hello! Come on in!"

Kian offered his hand and led the reporter to the living room to his father, Kevin Rose.

The bright smile did not reflect the nearly 20 surgical procedures -- including hip, hernia, and multiple back surgeries -- that the pre-teen boy had endured throughout his life. Nor that he faces another major one in a matter of weeks.

Kian was born with Hurler's Syndrome, a rare, inherited enzyme disorder. The disease affects one out of 100,000 births, and can cause blindness, mental retardation, and organ failures, if not treated.

Hurler's children's life expectancy is about three to 10, making Kian a "miracle child" as his parents like to refer to him.

"Every day is a birthday for him," his father said.

Hurler's Syndrome and Kian

Kian's mother, Sharon Rose, said her pregnancy was normal. However, in the first year of his life Kian kept having small health issues every couple of months. Runny nose and the like, "nothing alarming," she said. Kian was also growing at an unusual rate, 2 inches a month, Sharon Rose said.

It was not until when he was 15 months old that doctors diagnosed Kian with the rare disease.

"I tried to look up information on Hurler's Syndrome by myself, but there was so little information back then," Sharon Rose said.

Kian was put under the care of Morton Cowan, the chief of the allergy, immunology and bone marrow transplant division in the Department of Pediatrics of the UCSF Benioff Children's Hospital.

Cowan has performed bone marrow transplants since 1982, and performed the transplant on a Hurler's Syndrome patient in 1990 for the first time. He's tended to about 20 Hurler's Syndrome children since then -- including Kian.

It took about four months to find a bone marrow donor match for Kian.

Currently, bone marrow transplant is the only definitive treatment for these children, Cowan said.

He added that the transplant must be done before age 2, for it to be effective.

"Ideally it should be done in the newborn period," Cowan said. "If it's diagnosed too late in life, there might be a lot of damage done already in the brain and other vital organs."

Cowan explained that Hurler's Syndrome patients are born missing a specific enzyme, which prevents the body from breaking down certain chemicals in the body. This chemical builds up in the cells and damages the tissues to varying degrees over time.

Cowan, however, was quick to say that the bone marrow transplant is not a cure.

"It prolongs their lives, but we don't really know for how long," he said. "Changes may still be happening after the transplant, affecting things like the bones, their sight and hearing."

In Kian's case, his bones are still changing rapidly because of the disease. His spine is curved, which could lead to serious issues if not fixed. In April, just a week after his 12th birthday, Kian will undergo his next major surgery -- fusing of his spine.

The operation is to correct his spine's structure, even though it will mean that his torso will no longer be able to grow vertically.

Since their son was diagnosed with the rare disease, the Roses have been determined to contribute to the research on Hurler's Syndrome.

In 2006, the family set up the Kian Jordan Rose Charitable Fund, through the East Bay Community Foundation, to raise money for the UCSF research. About two years later, the Kian Jordan Rose Foundation, a nonprofit organization, was set up. Its mission is not only to raise funds for research, but also to raise awareness about the disease, Kevin Rose said.

"I thought if I didn't have $1 million I couldn't start a foundation," he said.

Since 2006, the family has raised more than $55,000 for research, $25,000 of which was raised during the foundation's gala last year.

"Every amount helps," Cowan said. "And certainly what (the Roses) have been able to do allows us to continue some our studies in trying to make gene therapy more effective, not only for Hurler's Syndrome.

"It can make the difference between making progress or not. I applaud them wholeheartedly. I am very grateful, because I think it will eventually help kids with Hurler's and kids with other diseases, too."

Cowan said the progress in research could make newborn Hurler's Syndrome tests affordable and efficient, as well as developing gene therapy to treat those born with the disease.

The family

After a test, Kian's parents found out that they are both carriers of the disease, which means there's a 25 percent chance for their children to develop the syndrome.

The relatively high percentage deters Sharon Rose from wanting more children.

Even though the fetus could be tested for the disease during the early stage of pregnancy, the couple then would be left with the difficult decision of continuing or terminating the pregnancy.

"That was too hard for me," Sharon Rose said. "I'm so sorry that I don't have any more (children). But I still think I made the right decision."

Taking care of Kian is difficult on the Roses' marriage too.

"It's been hard. It's a struggle," Sharon Rose said. "The divorce rate is very high with special needs parents. But you just need to make the commitment to the marriage."

Being working parents also helps keep them grounded, Sharon Rose said.

She said she and her husband have outside activities to keep them "balanced." Kevin Rose bowls every Tuesday, while she belongs to a women's group.

The family also tries to keep Kian's life as "mainstream" as possible, Kevin Rose said. He is in sixth grade at the Franklin Middle School special education program, and he has participated in the Vallejo Special Olympics in the past four years. His favorite TV programs are SpongeBob SquarePants and Dora the Explorer.

Kian is an active child, but his father said he feels sad knowing that his son is unable to play the sports that he played when he was his age.

"I know my son can't do the things I used to do," Kevin Rose said. "But he substituted it with his spirit. God has a bigger reason for him to be here. His will to survive is amazing."

While his father was talking about his family's passion for bowling, Kian got up from his chair and said, "I got a strike!"

"That's right, son. You did!" Kevin Rose said.

Kian walked to the reclining chair where he was sitting and gave his dad double high-fives, before climbing up into his lap.

"I love you, son," Kevin Rose said while they embraced.

The Kian Jordan Rose Foundation will have its second annual gala in March. To RSVP call Katie Allen at (510) 582-1233. For more information on Hurler's Syndrome and the foundation, visit www.kjrf.org.

If you go:

What: The Kian Jordan Rose Foundation Second Annual Gala

When: 6 p.m. March 24

Where: The Hilton Concord, 1970 Diamond Blvd., Concord

Fee: $125/person

Dress code: Black tie optional

Contact: Katie Allen, (510) 582-1233

Hurler's Syndrome at a glance

Hurler's Syndrome is a subdivision of Mucopolysaccharidosis Type I (MPS disorders). Those born with n Hurler's Syndrome are missing a specific enzyme, which prevents the body from breaking down certain chemicals in the body. The chemical then builds up in the cells and damages the various tissues in the body.

The genetic disorder was first described in 1919 by Gertrud Hurler, a German physician. It affects about one out of 100,000 births, and if not treated could lead to mental retardation, blindness and organ failures.

Features of a Hurler's Syndrome patient include progressive curvature of the spine, a short neck, claw-like hands, enlarged head, coarseness of the facial features with flattening of the bridge of the nose, wide nostrils, thick lips and a large protruding tongue.

Their life expectancy is 3 to 10 years of age.

Sources: National Organization for Rare Disorders and the Kian Jordan Rose Foundation